Related Experiment Videos
Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy
American Journal of Human Genetics
|June 1, 1991
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
The human embryonic genome is karyotypically complex, with chromosomally abnormal cells preferentially located away from the developing fetus.
Human reproduction (Oxford, England)·2022
ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2022
The genetics and genomics of cystic fibrosis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2019
Decreased mRNA and protein stability of W1282X limits response to modulator therapy.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2019
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Journal of autism and developmental disorders·2016
Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.
American journal of human genetics·2026
Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.
American journal of human genetics·2026
Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.
American journal of human genetics·2026
Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.
American journal of human genetics·2026
A phenotypic paradigm for cerebral palsy genetics.
American journal of human genetics·2026
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.
American journal of human genetics·2026
Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences·2026
Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.
Biology of sex differences·2026
Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.
Journal of assisted reproduction and genetics·2026